Incidental Mutation 'R1310:Tmem38a'
ID |
157907 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmem38a
|
Ensembl Gene |
ENSMUSG00000031791 |
Gene Name |
transmembrane protein 38A |
Synonyms |
1110001E17Rik, TRIC-A |
MMRRC Submission |
039376-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1310 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
73325899-73341126 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 73333814 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Isoleucine
at position 98
(F98I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000034244
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034244]
[ENSMUST00000211914]
[ENSMUST00000212763]
|
AlphaFold |
Q3TMP8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000034244
AA Change: F98I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000034244 Gene: ENSMUSG00000031791 AA Change: F98I
Domain | Start | End | E-Value | Type |
transmembrane domain
|
15 |
37 |
N/A |
INTRINSIC |
Pfam:TRIC
|
40 |
231 |
5.5e-84 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000211914
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000212763
AA Change: F98I
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.4%
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele are viable and fertile. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 22 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgre1 |
A |
G |
17: 57,754,936 (GRCm39) |
H678R |
probably benign |
Het |
Adgrv1 |
A |
G |
13: 81,714,496 (GRCm39) |
V929A |
probably benign |
Het |
Bcl10 |
T |
G |
3: 145,636,180 (GRCm39) |
V26G |
probably damaging |
Het |
C4b |
A |
G |
17: 34,948,567 (GRCm39) |
V1581A |
probably damaging |
Het |
C87436 |
A |
G |
6: 86,422,432 (GRCm39) |
E2G |
possibly damaging |
Het |
Def6 |
G |
A |
17: 28,436,593 (GRCm39) |
V86I |
probably benign |
Het |
Drd3 |
A |
G |
16: 43,641,892 (GRCm39) |
K403E |
probably damaging |
Het |
Eme1 |
G |
A |
11: 94,536,368 (GRCm39) |
R534C |
probably damaging |
Het |
H2-T24 |
G |
T |
17: 36,325,888 (GRCm39) |
Y234* |
probably null |
Het |
Hoxa13 |
CCG |
CCGCG |
6: 52,237,618 (GRCm39) |
|
probably null |
Het |
Ifit1bl1 |
A |
G |
19: 34,571,096 (GRCm39) |
S454P |
possibly damaging |
Het |
Or4x11 |
T |
A |
2: 89,868,047 (GRCm39) |
D261E |
probably benign |
Het |
Or51a43 |
C |
T |
7: 103,717,805 (GRCm39) |
M144I |
probably benign |
Het |
Pde4c |
A |
G |
8: 71,202,572 (GRCm39) |
D592G |
possibly damaging |
Het |
Scn11a |
C |
T |
9: 119,584,123 (GRCm39) |
W1497* |
probably null |
Het |
Sik3 |
A |
G |
9: 46,130,724 (GRCm39) |
E1170G |
possibly damaging |
Het |
Soat1 |
A |
G |
1: 156,268,902 (GRCm39) |
L183P |
possibly damaging |
Het |
Svep1 |
T |
A |
4: 58,069,416 (GRCm39) |
Y2790F |
possibly damaging |
Het |
Tmeff2 |
T |
C |
1: 51,220,946 (GRCm39) |
V307A |
probably damaging |
Het |
Yod1 |
C |
T |
1: 130,646,567 (GRCm39) |
A148V |
probably benign |
Het |
Zfp850 |
A |
C |
7: 27,688,884 (GRCm39) |
S441R |
probably benign |
Het |
Zfp976 |
G |
A |
7: 42,262,610 (GRCm39) |
P409L |
probably damaging |
Het |
|
Other mutations in Tmem38a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02572:Tmem38a
|
APN |
8 |
73,333,818 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02715:Tmem38a
|
APN |
8 |
73,333,512 (GRCm39) |
missense |
possibly damaging |
0.69 |
IGL02967:Tmem38a
|
APN |
8 |
73,339,926 (GRCm39) |
missense |
possibly damaging |
0.95 |
R0631:Tmem38a
|
UTSW |
8 |
73,333,862 (GRCm39) |
missense |
probably benign |
0.05 |
R1073:Tmem38a
|
UTSW |
8 |
73,333,947 (GRCm39) |
missense |
probably damaging |
1.00 |
R1161:Tmem38a
|
UTSW |
8 |
73,333,814 (GRCm39) |
missense |
probably damaging |
1.00 |
R1489:Tmem38a
|
UTSW |
8 |
73,333,479 (GRCm39) |
missense |
probably damaging |
1.00 |
R2040:Tmem38a
|
UTSW |
8 |
73,335,096 (GRCm39) |
missense |
probably damaging |
1.00 |
R4508:Tmem38a
|
UTSW |
8 |
73,326,005 (GRCm39) |
missense |
possibly damaging |
0.91 |
R4515:Tmem38a
|
UTSW |
8 |
73,326,005 (GRCm39) |
missense |
possibly damaging |
0.91 |
R4517:Tmem38a
|
UTSW |
8 |
73,326,005 (GRCm39) |
missense |
possibly damaging |
0.91 |
R4521:Tmem38a
|
UTSW |
8 |
73,326,005 (GRCm39) |
missense |
possibly damaging |
0.91 |
R4522:Tmem38a
|
UTSW |
8 |
73,326,005 (GRCm39) |
missense |
possibly damaging |
0.91 |
R4529:Tmem38a
|
UTSW |
8 |
73,326,005 (GRCm39) |
missense |
possibly damaging |
0.91 |
R4867:Tmem38a
|
UTSW |
8 |
73,335,077 (GRCm39) |
missense |
possibly damaging |
0.80 |
R5200:Tmem38a
|
UTSW |
8 |
73,333,878 (GRCm39) |
missense |
probably damaging |
1.00 |
R5807:Tmem38a
|
UTSW |
8 |
73,333,944 (GRCm39) |
missense |
probably damaging |
1.00 |
R5882:Tmem38a
|
UTSW |
8 |
73,339,731 (GRCm39) |
missense |
probably damaging |
1.00 |
R7803:Tmem38a
|
UTSW |
8 |
73,325,964 (GRCm39) |
missense |
probably benign |
0.01 |
R8945:Tmem38a
|
UTSW |
8 |
73,338,570 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- GGAGCCCATCATTGACTACTTCAGC -3'
(R):5'- ACTGAATACCTTGTGGGAGTGAATGC -3'
Sequencing Primer
(F):5'- TTGACTACTTCAGCAACAGCTC -3'
(R):5'- ctgcaagctcctgagcc -3'
|
Posted On |
2014-02-18 |